Charcot-Marie-Tooth disease type 2T
Synonyms: AR-CMT2T · Autosomal recessive axonal Charcot-Marie-Tooth disease type 2T · CMT2T
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult
- Status
- active
A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, sensory impairment, and decreased or absent deep tendon reflexes predominantly in the lower extremities. Patients present gait disturbances but remain ambulatory. Mild involvement of the upper limbs may be seen.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Charcot-Marie-Tooth disease type 2T | AR-CMT2T · Autosomal recessive axonal Charcot-Marie-Tooth disease type 2T · CMT2T |
| fr | Maladie de Charcot-Marie-Tooth type 2T | AR-CMT2T · CMT2T · Maladie de Charcot-Marie-Tooth axonale autosomique récessive type 2T |
| de | Charcot-Marie-Tooth Krankheit Typ 2T | AR-CMT2T · CMT2T · Charcot-Marie-Tooth Krankheit, axonale, autosomal-rezessive, Typ 2T |
| es | Enfermedad de Charcot-Marie-Tooth tipo 2T | CMT2T · CMT2T-AR · Enfermedad de Charcot-Marie-Tooth axonal autosómica recesiva tipo 2T |
| it | Malattia di Charcot-Marie-Tooth tipo 2T | CMT2T · CMT2T-AR · Malattia di Charcot-Marie-Tooth assonale autosomica recessiva tipo 2T |
| nl | Ziekte van Charcot-Marie-Tooth type 2T | AR-CMT2T · Autosomaal recessieve axonale ziekte van Charcot-Marie-Tooth type 2T · CMT2T |
| pt | Doença Charcot-Marie-Tooth tipo 2T | Doença Charcot-Marie-Tooth tipo 2T axonal autossomica recessiva · CMT2T · CMT2T-AR |
| pl | Choroba Charcota, Mariego i Tootha, typu 2T | Choroba Charcota, Mariego i Tootha aksonalna, autosomalna recesywna, typu 2T |
| cs | Charcot-Marie-Toothova nemoc, typ 2T | CMT2T · AR-CMT2T · Autozomálně recesivní, primárně axonální Charcot-Marie-Toothova nemoc, typ 2T |
| uk | Хвороба Шарко-Марі-Тута, тип 2Т | AR-CMT2T · Аутосомно-рецесивна аксональна хвороба Шарко-Марі-Тута, тип 2Т · CMT2T |
| zh | 夏科特-玛丽齿病2T型 | 常染色体隐性夏洛特-玛丽齿病2T型 |
| tr | Charcot-Marie-Tooth hastalığı tip 2T | CMT2T · AR-CMT2T · Otozomal çekinik aksonal Charcot-Marie-Tooth hastalığı tip 2T |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617017 | NTBT | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| MONDO | 0044640 | E | validated | |
| UMLS | C4015635 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:91024Autosomal recessive axonal hereditary motor and sensory neuropathy
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MME | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:7154 | ENSG00000196549 | 120520 | 3q25.2 | membrane metalloendopeptidase | 26991897[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | 26991897[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26991897[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/495274
- This record as JSON: /data/d/495274.json